Results 101 to 110 of about 2,461,819 (231)

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency [PDF]

, 2017
Isolated Complex I (CI) deficiency is the most commonly observed mitochondrial respiratory chain biochemical defect, affecting the largest OXPHOS component. CI is genetically heterogeneous; pathogenic variants affect one of 38 nuclear-encoded subunits, 7
Ahmed, ST, Alston, CL, Falkous, G, Hargreaves, IP, He, L, Hopton, S, McFarland, R, Olahova, M, Rocha, MC, Taylor, RW, Turnbull, DM   +10 more
core   +2 more sources

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

MELAS‐Like Mitochondrial Encephalopathy With Catatonia Associated With a Pathogenic MT‐ND3 (m.10158 T > C) Mutation: A Case Report and Literature Review

Progress in Neurology and Psychiatry, Volume 30, Issue 2, May 2026.
Abstract Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke‐like episodes (MELAS) is a rare multisystem mitochondrial disorder primarily caused by mutations in mitochondrial DNA. While it typically presents with stroke‐like episodes, seizures, and lactic acidosis, recent evidence highlights a broader clinical spectrum, including ...
Faezeh Khorshidian, Vajiheh Aghamollaii, Mohammadreza Mousavipour, Setareh Rassa   +3 more
wiley   +1 more source

High sensitivity of an ELISA kit for detection of the gamma-isoform of 14-3-3 proteins: usefulness in laboratory diagnosis of human prion disease [PDF]

, 2011
Background The gamma-isoform of the 14-3-3 protein (14-3-3 gamma) is expressed in neurons, and could be a specific marker for neuronal damage.
Yuki Matsui, Katsuya Satoh, Toshiaki Miyazaki, Susumu Shirabe, Ryuichiro Atarashi, Kazuo Mutsukura, Akira Satoh, Yasufumi Kataoka, Noriyuki Nishida   +8 more
core   +1 more source

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases

European Journal of Immunology, Volume 56, Issue 4, April 2026.
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais, Alessandra Pennisi, Alexandre Pierga, Alice Lepelley, Nicolas Cagnard, Christine Bole, Patrick Nitschke, Mohamed Hamici, Frédéric Rieux‐Laucat, Manuel Schiff, Arnold Munnich, Agnès Rötig   +11 more
wiley   +1 more source

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions [PDF]

, 2014
Background: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke ...
A Achilli, A Gómez-Durán, A Maresca, Anna Olivieri, Antonia Parmeggiani, Antonio Torroni, AS Lebre, B Funalot, C Giordano, C La Morgia, Carlotta Stipa, Caterina Tonon, Chiara La Morgia, Cristina Scaduto, Daniela Brunetto, F Ji, Francesca Gandini, Francesco Toni, J Yang, JY Kim, L Caporali, Leonardo Caporali, Raffaele Lodi, RM Andrews, SL Cui, Stefania Nassetti, V Carelli, V Carelli, Valerio Carelli   +28 more
core   +3 more sources

Emerging Design Principles at the Forefront of Mitochondrial Transplantation Using Engineering Methodologies: Current Achievements and Future Directions

Chemical Biology &Drug Design, Volume 107, Issue 4, April 2026.
Mitochondrial transplantation is emerging as a method to restore diverse mitochondrial functions, but it faces delivery challenges. Engineering advances address these gaps via tissue targeting, protection from external stresses, and enhanced cellular internalization.
Naoto Yoshinaga, Keiji Numata
wiley   +1 more source

Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review [PDF]

, 2018
Aim To evaluate the feasibility of microRNAs (miR) in clinical use to fill in the gap of current methodology commonly used to test hearing impairment in MELAS patients.
Angelini, Corrado, Di Stadio, Arianna, Dipietro, Laura, Giaretta, Laura, Marozzo, Roberta, Pegoraro, Valentina   +5 more
core   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Pituitary adenomas: clinical, surgical, immunohistochemical aspects, invasive and proliferative cellular nuclear antigen (PCNA) relationship [PDF]

, 2002
Universidade Federal de São Paulo (UNIFESP) Escola Paulista de MedicinaUNIFESP ...
Tella Jr, Osvaldo Inácio De
core   +3 more sources